| proximale myotone myopathie (aandoening) | | proximale myotone myopathie | | myotonische dystrofie type 2
MD type 2
proximale myotone dystrofie
Ricker-syndroom
ziekte van Ricker
PROMM
| | Proximal myotonic myopathy | | Myotonic dystrophy type 2
Ricker syndrome
Ricker disease
| | A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). |
| | Id | 715317001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.1 | | Term | Myotone aandoeningen |
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| SNOMED CT to Orphanet simple map | 606 |
| SNOMED CT to ICD-10 extended map | | Target | G71.1 | | Rule | TRUE | | Advice | ALWAYS G71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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